Forty four probands with an additional ?marker? chromosome

Buckton, K. E.; Spowart, G.; Newton, Marjorie; Evans, H. J.

doi:10.1007/bf00291656

Cited by 209 publications

(175 citation statements)

References 42 publications

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“…The most common SMCs are known to be SMCs originating from chromosome 15 (SMC (15)), in the form of inv dup (15), constituting approximately half of the cases in population studies (2). The present series also showed three (60%) SMC(15)s among five acrocentric SMCs.…”

Section: Discussionsupporting

confidence: 54%

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Marker Chromosomes in Korean Patients: Incidence, Identification and Diagnostic Approach

et al. 2003

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The identification of marker chromosomes is important for genetic counseling. However, the origin or composition can rarely be defined with conventional cytogenetic technique alone. In this study, we investigated the incidences and types of marker chromosomes in Korean patients and attempted to establish a cost-effective diagnostic approach for marker chromosomes. We reviewed the karyotypes of 2,984 patients that were requested for the cytogenetic analysis between 1997 and 2003 at the Samsung Medical Center. Ten marker chromosomes were found and identified using fluorescent in situ hybridization (FISH). Among the ten marker chromosomes, six were supernumerary marker chromosomes (SMCs) and the rest were marker chromosomes in Turner syndrome (TS). The incidence of SMCs was 2.01/1,000, slightly higher than that previously reported. Five of six SMCs were satellited marker chromosomes. Three bisatellited marker chromosomes originated from chromosome 15 and two from chromosome 22. The origin of one SMC could not be identified. All marker chromosomes in TS originated from X- or Y chromosome. The application of FISH is indispensable to identify marker chromosomes, and the appropriate selection of probes is necessary for cost-effective analysis. For analyzing satellited marker chromosomes, application of probes for chromosome 15 followed by those for chromosome 22 is recommended and in cases of TS, probes for sex chromosomes should take precedence.

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Section: Discussionsupporting

confidence: 54%

“…About 3% of TS patients have a marker chromosome in addition to monosomy X (1). Meanwhile, prevalence of SMCs at birth is estimated at 0.6-1.5/1,000 (2,3). About 80% of SMCs arise de novo and occur more frequently with advanced maternal age (4).…”

Section: Introductionmentioning

confidence: 99%

Marker Chromosomes in Korean Patients: Incidence, Identification and Diagnostic Approach

et al. 2003

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“…However, the frequency of sSMCs detected in infertile patients is higher than that in general population (0.125% versus 0.043%) [14], and it is also different between male (0.165%) and female infertility (0.022%). sSMCs are preferentially maternally transmitted [15], suggesting either a reduced fertility in male carriers or that the marker is excluded in spermatogenesis.…”

Section: Discussionmentioning

confidence: 99%

A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin

Wang

Zhu

et al. 2009

J Assist Reprod Genet

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“…8 Supernumerary marker chromosomes (SMC) are found in 0.24 per 1000 live births; however, in the mentally retarded population the frequency rises to 3.27 per 1000. 9 The most commonly occurring SMCs are derived from inverted duplications of the pericentromeric region of chromosome 15 (inv dup (15)). Overall, the phenotype associated with inv dup (15) varies from normal to severely mentally retarded, with little or no dysmorphology.…”

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confidence: 99%

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

Long

Duckett

Billam

et al. 1998

Journal of Medical Genetics

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A 4 year old female referred with developmental delay was found to have two de novo abnormal derivatives of chromosome 15, a supernumerary inverted duplicated marker chromosome (inv dup (15)) and an interstitial triplication of proximal 15qll-ql3 or 14 in one ofthe two 15 homologues (trip (15)). Fluorescence in situ hybridisation (FISH) using probes within and flanking the Prader-WillilAngelman syndrome critical region (PWASCR) confirmed the triplication in the abnormal 15 homologue. The inv dup(15) was dicentric, positive for IR39d which maps proximal to the PWASCR, but was negative for all the PWASCR FISH probes used. Results using polymorphic microsatellite repeats confirmed that the additional material in the trip(l5) was maternal in origin and included several PWASCR loci. The presence of two de novo abnormalities involving the proximal region of 15q suggests a linked mechanism of origin. (JMed Genet 1998;35:425-428)

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Forty four probands with an additional ?marker? chromosome

Cited by 209 publications

References 42 publications

Marker Chromosomes in Korean Patients: Incidence, Identification and Diagnostic Approach

Marker Chromosomes in Korean Patients: Incidence, Identification and Diagnostic Approach

A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin

Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

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